| Accession |
PRJCA032134 |
| Title |
Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family |
| Relevance |
Medical |
| Data types |
Phenotype or Genotype
|
| Organisms |
Homo sapiens
|
| Description |
This study report a novel missense variant in the cyclic nucleotide-gated channel 3 (CNGA3) gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. |
| Sample scope |
Multiisolate |
| Release date |
2024-11-08 |
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| National Natural Science Foundation of China (NSFC)
|
|
82171713
|
|
| Foshan science and technology bureau
|
|
2020001005606
|
|
| Foshan science and technology bureau
|
|
2020001003953
|
|
|
|
| Submitter |
Xingkun
Yang (185330128@qq.com)
|
| Organization |
Foshan maternal and children hospital |
| Submission date |
2024-11-08 |
